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FRMD4B FERM domain containing 4B [ Homo sapiens (human) ]

Gene ID: 23150, updated on 2-Nov-2024

Summary

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Official Symbol
FRMD4Bprovided by HGNC
Official Full Name
FERM domain containing 4Bprovided by HGNC
Primary source
HGNC:HGNC:24886
See related
Ensembl:ENSG00000114541 MIM:617467; AllianceGenome:HGNC:24886
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GRSP1; 6030440G05Rik
Summary
This gene encodes a GRP1-binding protein which contains a FERM protein interaction domain as well as two coiled coil domains. This protein may play a role as a scaffolding protein. [provided by RefSeq, Mar 2014]
Expression
Ubiquitous expression in spleen (RPKM 7.8), esophagus (RPKM 7.0) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See FRMD4B in Genome Data Viewer
Location:
3p14.1
Exon count:
35
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (69168782..69542586, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (69205753..69579785, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (69217933..69435239, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14516 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14517 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14518 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20051 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20052 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20053 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:69152971-69154170 Neighboring gene NANOG hESC enhancer GRCh37_chr3:69160043-69160544 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:69170601-69171800 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:69193854-69194511 Neighboring gene ARF like GTPase 6 interacting protein 5 Neighboring gene ubiquitin like modifier activating enzyme 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:69280094-69280858 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:69284177-69284678 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:69284679-69285178 Neighboring gene leiomodin 3 Neighboring gene NANOG hESC enhancer GRCh37_chr3:69298106-69298630 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:69337315-69338305 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20054 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:69434706-69435316 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:69441946-69442574 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:69470329-69470828 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:69469827-69470328 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:69511585-69512085 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:69534465-69535137 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:69560923-69561519 Neighboring gene RNA binding motif protein 43 pseudogene 1 Neighboring gene NANOG hESC enhancer GRCh37_chr3:69655392-69655947 Neighboring gene H1-8 pseudogene 1 Neighboring gene NFE2L2 motif-containing MPRA enhancer 231 Neighboring gene MITF-A promoter region Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:69818568-69819767 Neighboring gene RNA, 7SL, cytoplasmic 418, pseudogene Neighboring gene MITF-H promoter region Neighboring gene melanocyte inducing transcription factor Neighboring gene MITF-M distal enhancer Neighboring gene MITF-M promoter region Neighboring gene survival associated mitochondrial melanoma specific oncogenic non-coding RNA Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20055 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20056 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20057 Neighboring gene RNA binding region (RNP1, RRM) containing 3 pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Association of an intronic, but not any exonic, FRMD4B sequence variant and heart failure. Matkovich SJ, et al. Clin Transl Sci, 2010 Aug. PMID 20718813, Free PMC Article
  2. Common variants in HSPB7 and FRMD4B associated with advanced heart failure. Cappola TP, et al. Circ Cardiovasc Genet, 2010 Apr. PMID 20124441, Free PMC Article
  3. Signaling complexes of the FERM domain-containing protein GRSP1 bound to ARF exchange factor GRP1. Klarlund JK, et al. J Biol Chem, 2001 Oct 26. PMID 11445584
  4. Genome-wide association with bone mass and geometry in the Framingham Heart Study. Kiel DP, et al. BMC Med Genet, 2007 Sep 19. PMID 17903296, Free PMC Article
  5. The RNF146 and tankyrase pathway maintains the junctional Crumbs complex through regulation of angiomotin. Campbell CI, et al. J Cell Sci, 2016 Sep 15. PMID 27521426

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. association between the intronic rs6787362 FRMD4B SNP and ischemic cardiomyopathy in a European-derived population, but not FRMD4B variants as susceptibility factors in common heart failure
    Title: Association of an intronic, but not any exonic, FRMD4B sequence variant and heart failure.
  2. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Association of an intronic, but not any exonic, FRMD4B sequence variant and heart failure.
  4. SNP is located in a 3' intronic region of the FRMD4B gene. FRMD4B as novel susceptibility loci for advanced heart failure.
    Title: Common variants in HSPB7 and FRMD4B associated with advanced heart failure.
  5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association with bone mass and geometry in the Framingham Heart Study.
EBI GWAS Catalog
Multiple common variants for celiac disease influencing immune gene expression.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA1013

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in establishment of epithelial cell polarity IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in adherens junction IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in bicellular tight junction IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
located_in extracellular space HDA PubMed 
located_in ruffle IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
FERM domain-containing protein 4B
Names
GRP1-binding protein GRSP1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_034059.2 RefSeqGene

    Range
    161498..378804
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_015123.3 → NP_055938.2  FERM domain-containing protein 4B

    Status: REVIEWED

    Source sequence(s)
    AC112221, AC135851
    Consensus CDS
    CCDS46863.1
    UniProtKB/Swiss-Prot
    Q8TAI3, Q9Y2L6
    UniProtKB/TrEMBL
    B4DHD5
    Related
    ENSP00000381549.3, ENST00000398540.8
    Conserved Domains (3) summary
    smart00295
    Location:75 → 260
    B41; Band 4.1 homologues
    cd13191
    Location:256 → 366
    FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
    pfam11819
    Location:395 → 528
    DUF3338; Domain of unknown function (DUF3338)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    69168782..69542586 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017005993.2 → XP_016861482.1  FERM domain-containing protein 4B isoform X5

    UniProtKB/TrEMBL
    B4DHD5
    Conserved Domains (5) summary
    smart00295
    Location:21 → 206
    B41; Band 4.1 homologues
    cd13191
    Location:202 → 312
    FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
    pfam00373
    Location:92 → 206
    FERM_M; FERM central domain
    pfam09379
    Location:21 → 70
    FERM_N; FERM N-terminal domain
    pfam11819
    Location:347 → 475
    DUF3338; Domain of unknown function (DUF3338)

  2. XM_047447767.1 → XP_047303723.1  FERM domain-containing protein 4B isoform X3

  3. XM_047447771.1 → XP_047303727.1  FERM domain-containing protein 4B isoform X5

  4. XM_047447769.1 → XP_047303725.1  FERM domain-containing protein 4B isoform X5

  5. XM_017005991.2 → XP_016861480.1  FERM domain-containing protein 4B isoform X3

    UniProtKB/TrEMBL
    B4DHD5

  6. XM_017005989.2 → XP_016861478.1  FERM domain-containing protein 4B isoform X1

  7. XM_047447770.1 → XP_047303726.1  FERM domain-containing protein 4B isoform X5

  8. XM_005264722.2 → XP_005264779.1  FERM domain-containing protein 4B isoform X4

    UniProtKB/TrEMBL
    B4DHD5
    Conserved Domains (5) summary
    smart00295
    Location:30 → 215
    B41; Band 4.1 homologues
    cd13191
    Location:211 → 321
    FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
    pfam00373
    Location:101 → 215
    FERM_M; FERM central domain
    pfam09379
    Location:30 → 79
    FERM_N; FERM N-terminal domain
    pfam11819
    Location:356 → 484
    DUF3338; Domain of unknown function (DUF3338)

  9. XM_017005990.2 → XP_016861479.1  FERM domain-containing protein 4B isoform X2

    UniProtKB/TrEMBL
    B4DHD5

  10. XM_047447768.1 → XP_047303724.1  FERM domain-containing protein 4B isoform X3

  11. XM_017005994.2 → XP_016861483.1  FERM domain-containing protein 4B isoform X5

    UniProtKB/TrEMBL
    B4DHD5
    Conserved Domains (5) summary
    smart00295
    Location:21 → 206
    B41; Band 4.1 homologues
    cd13191
    Location:202 → 312
    FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)
    pfam00373
    Location:92 → 206
    FERM_M; FERM central domain
    pfam09379
    Location:21 → 70
    FERM_N; FERM N-terminal domain
    pfam11819
    Location:347 → 475
    DUF3338; Domain of unknown function (DUF3338)

  12. XM_017005992.2 → XP_016861481.1  FERM domain-containing protein 4B isoform X3

    UniProtKB/TrEMBL
    B4DHD5

  13. XM_047447772.1 → XP_047303728.1  FERM domain-containing protein 4B isoform X6

  14. XM_017005995.2 → XP_016861484.1  FERM domain-containing protein 4B isoform X6

    UniProtKB/TrEMBL
    B4DHD5
    Conserved Domains (1) summary
    cd13191
    Location:11 → 121
    FERM_C_FRMD4A_FRMD4B; FERM domain C-lobe of FERM domain-containing protein 4A and 4B (FRMD4A and 4B)

  15. XM_017005996.2 → XP_016861485.1  FERM domain-containing protein 4B isoform X7

    UniProtKB/TrEMBL
    E9PGA7

  16. XM_047447773.1 → XP_047303729.1  FERM domain-containing protein 4B isoform X8

  17. XM_017005997.2 → XP_016861486.1  FERM domain-containing protein 4B isoform X9

    UniProtKB/TrEMBL
    E9PGA7
    Related
    ENSP00000418682.1, ENST00000478263.5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    69205753..69579785 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054345805.1 → XP_054201780.1  FERM domain-containing protein 4B isoform X5

  2. XM_054345800.1 → XP_054201775.1  FERM domain-containing protein 4B isoform X3

  3. XM_054345808.1 → XP_054201783.1  FERM domain-containing protein 4B isoform X5

  4. XM_054345806.1 → XP_054201781.1  FERM domain-containing protein 4B isoform X5

  5. XM_054345803.1 → XP_054201778.1  FERM domain-containing protein 4B isoform X3

  6. XM_054345798.1 → XP_054201773.1  FERM domain-containing protein 4B isoform X1

  7. XM_054345807.1 → XP_054201782.1  FERM domain-containing protein 4B isoform X5

  8. XM_054345804.1 → XP_054201779.1  FERM domain-containing protein 4B isoform X4

  9. XM_054345799.1 → XP_054201774.1  FERM domain-containing protein 4B isoform X2

  10. XM_054345801.1 → XP_054201776.1  FERM domain-containing protein 4B isoform X3

  11. XM_054345809.1 → XP_054201784.1  FERM domain-containing protein 4B isoform X5

  12. XM_054345802.1 → XP_054201777.1  FERM domain-containing protein 4B isoform X3

  13. XM_054345811.1 → XP_054201786.1  FERM domain-containing protein 4B isoform X6

  14. XM_054345810.1 → XP_054201785.1  FERM domain-containing protein 4B isoform X6

  15. XM_054345812.1 → XP_054201787.1  FERM domain-containing protein 4B isoform X7

  16. XM_054345813.1 → XP_054201788.1  FERM domain-containing protein 4B isoform X8

  17. XM_054345814.1 → XP_054201789.1  FERM domain-containing protein 4B isoform X9

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y2L6.4 GenPept UniProtKB/Swiss-Prot:Q9Y2L6

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